NM_000170.3:c.52G>T

HGVS Expressions

  • NG_016397.1:g.5245G>T
  • NM_000170.3:c.52G>T
  • NP_000161.2:p.Gly18Cys

Associated Genes

Glycine Decarboxylase
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Genomic Location

chr9:6645448

Clinical Significance

Benign,Likely Benign,Uncertain Significance

Variant Type

Substitution

Clinvar

367208

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
605899.2.1Lebanon2Likely PathogenicGlycine EncephalopathyJalkh et al. 2019
605899.2.2Lebanon2Likely PathogenicGlycine EncephalopathyJalkh et al. 2019 Sibling of 605899.2.1
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